dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1432290316
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr8:61653651-61653655 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- delCTTT
- Variation Type
- Indel Insertion and Deletion
- Frequency
- delCTTT=0.000004 (1/250600, GnomAD_exome)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- ASPH : Frameshift Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 250600 | TCTTT=0.999996 | delCTTT=0.000004 |
| gnomAD - Exomes | European | Sub | 134860 | TCTTT=0.999993 | delCTTT=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48838 | TCTTT=1.00000 | delCTTT=0.00000 |
| gnomAD - Exomes | American | Sub | 34468 | TCTTT=1.00000 | delCTTT=0.00000 |
| gnomAD - Exomes | African | Sub | 16254 | TCTTT=1.00000 | delCTTT=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10062 | TCTTT=1.00000 | delCTTT=0.00000 |
| gnomAD - Exomes | Other | Sub | 6118 | TCTTT=1.0000 | delCTTT=0.0000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.61653652_61653655del |
| GRCh37.p13 chr 8 | NC_000008.10:g.62566211_62566214del |
| ASPH RefSeqGene | NG_013210.1:g.65987_65990del |
Gene: ASPH, aspartate beta-hydroxylase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ASPH transcript variant 12 | NM_001164756.2:c. | N/A | Genic Downstream Transcript Variant |
| ASPH transcript variant 5 | NM_020164.5:c. | N/A | Genic Downstream Transcript Variant |
| ASPH transcript variant 4 | NM_032467.4:c. | N/A | Genic Downstream Transcript Variant |
| ASPH transcript variant 1 | NM_004318.4:c.329_332del | K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 1 | NP_004309.2:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 7 |
NM_001164751.2:c.287_290d… NM_001164751.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 7 | NP_001158223.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 11 |
NM_001164755.2:c.329_332d… NM_001164755.2:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 11 | NP_001158227.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 8 |
NM_001164752.2:c.287_290d… NM_001164752.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 8 | NP_001158224.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 6 |
NM_001164750.2:c.242_245d… NM_001164750.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 6 | NP_001158222.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 3 | NM_032466.4:c.329_332del | K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 3 | NP_115855.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 9 |
NM_001164753.2:c.287_290d… NM_001164753.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 9 | NP_001158225.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 2 | NM_032468.5:c.287_290del | K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 2 | NP_115857.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant 10 |
NM_001164754.2:c.329_332d… NM_001164754.2:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform 10 | NP_001158226.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X17 | XM_024447159.2:c. | N/A | Genic Downstream Transcript Variant |
| ASPH transcript variant X1 |
XM_017013419.2:c.374_377d… XM_017013419.2:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X1 | XP_016868908.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X2 |
XM_017013420.2:c.374_377d… XM_017013420.2:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X2 | XP_016868909.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X3 |
XM_017013422.3:c.329_332d… XM_017013422.3:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X3 | XP_016868911.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X4 |
XM_005251235.3:c.374_377d… XM_005251235.3:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X4 | XP_005251292.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X5 |
XM_005251236.3:c.374_377d… XM_005251236.3:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X5 | XP_005251293.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X3 |
XM_017013426.2:c.287_290d… XM_017013426.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X3 | XP_016868915.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X4 |
XM_017013427.2:c.287_290d… XM_017013427.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X4 | XP_016868916.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X8 |
XM_017013428.3:c.329_332d… XM_017013428.3:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X8 | XP_016868917.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X9 |
XM_047421785.1:c.374_377d… XM_047421785.1:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X9 | XP_047277741.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X10 |
XM_047421786.1:c.374_377d… XM_047421786.1:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X10 | XP_047277742.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X11 |
XM_017013429.3:c.329_332d… XM_017013429.3:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X11 | XP_016868918.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X5 |
XM_017013430.2:c.374_377d… XM_017013430.2:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X5 | XP_016868919.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X6 |
XM_017013431.2:c.242_245d… XM_017013431.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X6 | XP_016868920.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X14 |
XM_005251239.3:c.374_377d… XM_005251239.3:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X14 | XP_005251296.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X15 |
XM_017013434.2:c.374_377d… XM_017013434.2:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X15 | XP_016868923.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X7 |
XM_017013435.2:c.287_290d… XM_017013435.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X7 | XP_016868924.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X17 |
XM_005251240.2:c.287_290d… XM_005251240.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X17 | XP_005251297.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X18 |
XM_047421788.1:c.329_332d… XM_047421788.1:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X18 | XP_047277744.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X19 |
XM_017013437.3:c.329_332d… XM_017013437.3:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X19 | XP_016868926.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X20 |
XM_005251242.4:c.329_332d… XM_005251242.4:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X20 | XP_005251299.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X21 |
XM_047421789.1:c.329_332d… XM_047421789.1:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X21 | XP_047277745.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X22 |
XM_005251243.3:c.374_377d… XM_005251243.3:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X22 | XP_005251300.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X23 |
XM_017013438.2:c.374_377d… XM_017013438.2:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X23 | XP_016868927.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X8 |
XM_017013439.2:c.242_245d… XM_017013439.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X8 | XP_016868928.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X9 |
XM_017013440.2:c.287_290d… XM_017013440.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X9 | XP_016868929.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X10 |
XM_005251244.2:c.287_290d… XM_005251244.2:c.287_290del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X10 | XP_005251301.1:p.Lys96fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X27 |
XM_005251246.4:c.329_332d… XM_005251246.4:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X27 | XP_005251303.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X28 |
XM_047421790.1:c.329_332d… XM_047421790.1:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X28 | XP_047277746.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X29 |
XM_005251247.3:c.374_377d… XM_005251247.3:c.374_377del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X29 | XP_005251304.1:p.Lys125fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X11 |
XM_047421791.1:c.242_245d… XM_047421791.1:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X11 | XP_047277747.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X12 |
XM_017013444.2:c.242_245d… XM_017013444.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X12 | XP_016868933.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X13 |
XM_024447157.2:c.329_332d… XM_024447157.2:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X13 | XP_024302925.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X14 |
XM_047421792.1:c.329_332d… XM_047421792.1:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X14 | XP_047277748.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X15 |
XM_024447158.2:c.242_245d… XM_024447158.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X15 | XP_024302926.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X16 |
XM_047421793.1:c.329_332d… XM_047421793.1:c.329_332del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X16 | XP_047277749.1:p.Lys110fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X36 |
XM_017013445.2:c.242_245d… XM_017013445.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X36 | XP_016868934.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X37 |
XM_017013446.2:c.242_245d… XM_017013446.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X37 | XP_016868935.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
| ASPH transcript variant X38 |
XM_017013447.2:c.242_245d… XM_017013447.2:c.242_245del |
K [AAA] > R [AG] | Coding Sequence Variant |
| aspartyl/asparaginyl beta-hydroxylase isoform X38 | XP_016868936.1:p.Lys81fs | K (Lys) > R (Arg) | Frameshift Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | TCTTT= | delCTTT |
|---|---|---|
| GRCh38.p14 chr 8 | NC_000008.11:g.61653651_61653655= | NC_000008.11:g.61653652_61653655del |
| GRCh37.p13 chr 8 | NC_000008.10:g.62566210_62566214= | NC_000008.10:g.62566211_62566214del |
| ASPH RefSeqGene | NG_013210.1:g.65986_65990= | NG_013210.1:g.65987_65990del |
| ASPH transcript variant 2 | NM_032468.5:c.286_290= | NM_032468.5:c.287_290del |
| ASPH transcript variant 2 | NM_032468.4:c.286_290= | NM_032468.4:c.287_290del |
| ASPH transcript variant 1 | NM_004318.4:c.328_332= | NM_004318.4:c.329_332del |
| ASPH transcript variant 1 | NM_004318.3:c.328_332= | NM_004318.3:c.329_332del |
| ASPH transcript variant 3 | NM_032466.4:c.328_332= | NM_032466.4:c.329_332del |
| ASPH transcript variant 3 | NM_032466.3:c.328_332= | NM_032466.3:c.329_332del |
| ASPH transcript variant 6 | NM_001164750.2:c.241_245= | NM_001164750.2:c.242_245del |
| ASPH transcript variant 6 | NM_001164750.1:c.241_245= | NM_001164750.1:c.242_245del |
| ASPH transcript variant 10 | NM_001164754.2:c.328_332= | NM_001164754.2:c.329_332del |
| ASPH transcript variant 10 | NM_001164754.1:c.328_332= | NM_001164754.1:c.329_332del |
| ASPH transcript variant 11 | NM_001164755.2:c.328_332= | NM_001164755.2:c.329_332del |
| ASPH transcript variant 11 | NM_001164755.1:c.328_332= | NM_001164755.1:c.329_332del |
| ASPH transcript variant 7 | NM_001164751.2:c.286_290= | NM_001164751.2:c.287_290del |
| ASPH transcript variant 7 | NM_001164751.1:c.286_290= | NM_001164751.1:c.287_290del |
| ASPH transcript variant 8 | NM_001164752.2:c.286_290= | NM_001164752.2:c.287_290del |
| ASPH transcript variant 8 | NM_001164752.1:c.286_290= | NM_001164752.1:c.287_290del |
| ASPH transcript variant 9 | NM_001164753.2:c.286_290= | NM_001164753.2:c.287_290del |
| ASPH transcript variant 9 | NM_001164753.1:c.286_290= | NM_001164753.1:c.287_290del |
| ASPH transcript variant X20 | XM_005251242.4:c.328_332= | XM_005251242.4:c.329_332del |
| ASPH transcript variant X22 | XM_005251242.3:c.328_332= | XM_005251242.3:c.329_332del |
| ASPH transcript variant X25 | XM_005251242.2:c.328_332= | XM_005251242.2:c.329_332del |
| ASPH transcript variant X8 | XM_005251242.1:c.328_332= | XM_005251242.1:c.329_332del |
| ASPH transcript variant X27 | XM_005251246.4:c.328_332= | XM_005251246.4:c.329_332del |
| ASPH transcript variant X30 | XM_005251246.3:c.328_332= | XM_005251246.3:c.329_332del |
| ASPH transcript variant X31 | XM_005251246.2:c.328_332= | XM_005251246.2:c.329_332del |
| ASPH transcript variant X12 | XM_005251246.1:c.328_332= | XM_005251246.1:c.329_332del |
| ASPH transcript variant X3 | XM_017013422.3:c.328_332= | XM_017013422.3:c.329_332del |
| ASPH transcript variant X4 | XM_017013422.2:c.328_332= | XM_017013422.2:c.329_332del |
| ASPH transcript variant X4 | XM_017013422.1:c.328_332= | XM_017013422.1:c.329_332del |
| ASPH transcript variant X4 | XM_005251235.3:c.373_377= | XM_005251235.3:c.374_377del |
| ASPH transcript variant X7 | XM_005251235.2:c.373_377= | XM_005251235.2:c.374_377del |
| ASPH transcript variant X1 | XM_005251235.1:c.373_377= | XM_005251235.1:c.374_377del |
| ASPH transcript variant X5 | XM_005251236.3:c.373_377= | XM_005251236.3:c.374_377del |
| ASPH transcript variant X8 | XM_005251236.2:c.373_377= | XM_005251236.2:c.374_377del |
| ASPH transcript variant X2 | XM_005251236.1:c.373_377= | XM_005251236.1:c.374_377del |
| ASPH transcript variant X8 | XM_017013428.3:c.328_332= | XM_017013428.3:c.329_332del |
| ASPH transcript variant X11 | XM_017013428.2:c.328_332= | XM_017013428.2:c.329_332del |
| ASPH transcript variant X12 | XM_017013428.1:c.328_332= | XM_017013428.1:c.329_332del |
| ASPH transcript variant X11 | XM_017013429.3:c.328_332= | XM_017013429.3:c.329_332del |
| ASPH transcript variant X12 | XM_017013429.2:c.328_332= | XM_017013429.2:c.329_332del |
| ASPH transcript variant X14 | XM_017013429.1:c.328_332= | XM_017013429.1:c.329_332del |
| ASPH transcript variant X14 | XM_005251239.3:c.373_377= | XM_005251239.3:c.374_377del |
| ASPH transcript variant X17 | XM_005251239.2:c.373_377= | XM_005251239.2:c.374_377del |
| ASPH transcript variant X4 | XM_005251239.1:c.373_377= | XM_005251239.1:c.374_377del |
| ASPH transcript variant X19 | XM_017013437.3:c.328_332= | XM_017013437.3:c.329_332del |
| ASPH transcript variant X21 | XM_017013437.2:c.328_332= | XM_017013437.2:c.329_332del |
| ASPH transcript variant X24 | XM_017013437.1:c.328_332= | XM_017013437.1:c.329_332del |
| ASPH transcript variant X22 | XM_005251243.3:c.373_377= | XM_005251243.3:c.374_377del |
| ASPH transcript variant X25 | XM_005251243.2:c.373_377= | XM_005251243.2:c.374_377del |
| ASPH transcript variant X9 | XM_005251243.1:c.373_377= | XM_005251243.1:c.374_377del |
| ASPH transcript variant X29 | XM_005251247.3:c.373_377= | XM_005251247.3:c.374_377del |
| ASPH transcript variant X31 | XM_005251247.2:c.373_377= | XM_005251247.2:c.374_377del |
| ASPH transcript variant X12 | XM_005251247.1:c.373_377= | XM_005251247.1:c.374_377del |
| ASPH transcript variant X1 | XM_017013419.2:c.373_377= | XM_017013419.2:c.374_377del |
| ASPH transcript variant X1 | XM_017013419.1:c.373_377= | XM_017013419.1:c.374_377del |
| ASPH transcript variant X2 | XM_017013420.2:c.373_377= | XM_017013420.2:c.374_377del |
| ASPH transcript variant X2 | XM_017013420.1:c.373_377= | XM_017013420.1:c.374_377del |
| ASPH transcript variant X5 | XM_017013430.2:c.373_377= | XM_017013430.2:c.374_377del |
| ASPH transcript variant X13 | XM_017013430.1:c.373_377= | XM_017013430.1:c.374_377del |
| ASPH transcript variant X15 | XM_017013434.2:c.373_377= | XM_017013434.2:c.374_377del |
| ASPH transcript variant X18 | XM_017013434.1:c.373_377= | XM_017013434.1:c.374_377del |
| ASPH transcript variant X3 | XM_017013426.2:c.286_290= | XM_017013426.2:c.287_290del |
| ASPH transcript variant X9 | XM_017013426.1:c.286_290= | XM_017013426.1:c.287_290del |
| ASPH transcript variant X4 | XM_017013427.2:c.286_290= | XM_017013427.2:c.287_290del |
| ASPH transcript variant X10 | XM_017013427.1:c.286_290= | XM_017013427.1:c.287_290del |
| ASPH transcript variant X23 | XM_017013438.2:c.373_377= | XM_017013438.2:c.374_377del |
| ASPH transcript variant X26 | XM_017013438.1:c.373_377= | XM_017013438.1:c.374_377del |
| ASPH transcript variant X6 | XM_017013431.2:c.241_245= | XM_017013431.2:c.242_245del |
| ASPH transcript variant X14 | XM_017013431.1:c.241_245= | XM_017013431.1:c.242_245del |
| ASPH transcript variant X7 | XM_017013435.2:c.286_290= | XM_017013435.2:c.287_290del |
| ASPH transcript variant X19 | XM_017013435.1:c.286_290= | XM_017013435.1:c.287_290del |
| ASPH transcript variant X17 | XM_005251240.2:c.286_290= | XM_005251240.2:c.287_290del |
| ASPH transcript variant X20 | XM_005251240.1:c.286_290= | XM_005251240.1:c.287_290del |
| ASPH transcript variant X9 | XM_017013440.2:c.286_290= | XM_017013440.2:c.287_290del |
| ASPH transcript variant X28 | XM_017013440.1:c.286_290= | XM_017013440.1:c.287_290del |
| ASPH transcript variant X8 | XM_017013439.2:c.241_245= | XM_017013439.2:c.242_245del |
| ASPH transcript variant X27 | XM_017013439.1:c.241_245= | XM_017013439.1:c.242_245del |
| ASPH transcript variant X10 | XM_005251244.2:c.286_290= | XM_005251244.2:c.287_290del |
| ASPH transcript variant X29 | XM_005251244.1:c.286_290= | XM_005251244.1:c.287_290del |
| ASPH transcript variant X12 | XM_017013444.2:c.241_245= | XM_017013444.2:c.242_245del |
| ASPH transcript variant X32 | XM_017013444.1:c.241_245= | XM_017013444.1:c.242_245del |
| ASPH transcript variant X36 | XM_017013445.2:c.241_245= | XM_017013445.2:c.242_245del |
| ASPH transcript variant X35 | XM_017013445.1:c.241_245= | XM_017013445.1:c.242_245del |
| ASPH transcript variant X37 | XM_017013446.2:c.241_245= | XM_017013446.2:c.242_245del |
| ASPH transcript variant X36 | XM_017013446.1:c.241_245= | XM_017013446.1:c.242_245del |
| ASPH transcript variant X38 | XM_017013447.2:c.241_245= | XM_017013447.2:c.242_245del |
| ASPH transcript variant X37 | XM_017013447.1:c.241_245= | XM_017013447.1:c.242_245del |
| ASPH transcript variant X13 | XM_024447157.2:c.328_332= | XM_024447157.2:c.329_332del |
| ASPH transcript variant X33 | XM_024447157.1:c.328_332= | XM_024447157.1:c.329_332del |
| ASPH transcript variant X15 | XM_024447158.2:c.241_245= | XM_024447158.2:c.242_245del |
| ASPH transcript variant X34 | XM_024447158.1:c.241_245= | XM_024447158.1:c.242_245del |
| ASPH transcript variant X9 | XM_047421785.1:c.373_377= | XM_047421785.1:c.374_377del |
| ASPH transcript variant X10 | XM_047421786.1:c.373_377= | XM_047421786.1:c.374_377del |
| ASPH transcript variant X18 | XM_047421788.1:c.328_332= | XM_047421788.1:c.329_332del |
| ASPH transcript variant X21 | XM_047421789.1:c.328_332= | XM_047421789.1:c.329_332del |
| ASPH transcript variant X28 | XM_047421790.1:c.328_332= | XM_047421790.1:c.329_332del |
| ASPH transcript variant X11 | XM_047421791.1:c.241_245= | XM_047421791.1:c.242_245del |
| ASPH transcript variant X14 | XM_047421792.1:c.328_332= | XM_047421792.1:c.329_332del |
| ASPH transcript variant X16 | XM_047421793.1:c.328_332= | XM_047421793.1:c.329_332del |
| aspartyl/asparaginyl beta-hydroxylase isoform 2 | NP_115857.1:p.Lys96_Glu97= | NP_115857.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 1 | NP_004309.2:p.Lys110_Glu111= | NP_004309.2:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 3 | NP_115855.1:p.Lys110_Glu111= | NP_115855.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 6 | NP_001158222.1:p.Lys81_Glu82= | NP_001158222.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 10 | NP_001158226.1:p.Lys110_Glu111= | NP_001158226.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 11 | NP_001158227.1:p.Lys110_Glu111= | NP_001158227.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 7 | NP_001158223.1:p.Lys96_Glu97= | NP_001158223.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 8 | NP_001158224.1:p.Lys96_Glu97= | NP_001158224.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform 9 | NP_001158225.1:p.Lys96_Glu97= | NP_001158225.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X20 | XP_005251299.1:p.Lys110_Glu111= | XP_005251299.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X27 | XP_005251303.1:p.Lys110_Glu111= | XP_005251303.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X3 | XP_016868911.1:p.Lys110_Glu111= | XP_016868911.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X4 | XP_005251292.1:p.Lys125_Glu126= | XP_005251292.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X5 | XP_005251293.1:p.Lys125_Glu126= | XP_005251293.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X8 | XP_016868917.1:p.Lys110_Glu111= | XP_016868917.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X11 | XP_016868918.1:p.Lys110_Glu111= | XP_016868918.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X14 | XP_005251296.1:p.Lys125_Glu126= | XP_005251296.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X19 | XP_016868926.1:p.Lys110_Glu111= | XP_016868926.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X22 | XP_005251300.1:p.Lys125_Glu126= | XP_005251300.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X29 | XP_005251304.1:p.Lys125_Glu126= | XP_005251304.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X1 | XP_016868908.1:p.Lys125_Glu126= | XP_016868908.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X2 | XP_016868909.1:p.Lys125_Glu126= | XP_016868909.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X5 | XP_016868919.1:p.Lys125_Glu126= | XP_016868919.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X15 | XP_016868923.1:p.Lys125_Glu126= | XP_016868923.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X3 | XP_016868915.1:p.Lys96_Glu97= | XP_016868915.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X4 | XP_016868916.1:p.Lys96_Glu97= | XP_016868916.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X23 | XP_016868927.1:p.Lys125_Glu126= | XP_016868927.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X6 | XP_016868920.1:p.Lys81_Glu82= | XP_016868920.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X7 | XP_016868924.1:p.Lys96_Glu97= | XP_016868924.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X17 | XP_005251297.1:p.Lys96_Glu97= | XP_005251297.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X9 | XP_016868929.1:p.Lys96_Glu97= | XP_016868929.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X8 | XP_016868928.1:p.Lys81_Glu82= | XP_016868928.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X10 | XP_005251301.1:p.Lys96_Glu97= | XP_005251301.1:p.Lys96fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X12 | XP_016868933.1:p.Lys81_Glu82= | XP_016868933.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X36 | XP_016868934.1:p.Lys81_Glu82= | XP_016868934.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X37 | XP_016868935.1:p.Lys81_Glu82= | XP_016868935.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X38 | XP_016868936.1:p.Lys81_Glu82= | XP_016868936.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X13 | XP_024302925.1:p.Lys110_Glu111= | XP_024302925.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X15 | XP_024302926.1:p.Lys81_Glu82= | XP_024302926.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X9 | XP_047277741.1:p.Lys125_Glu126= | XP_047277741.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X10 | XP_047277742.1:p.Lys125_Glu126= | XP_047277742.1:p.Lys125fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X18 | XP_047277744.1:p.Lys110_Glu111= | XP_047277744.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X21 | XP_047277745.1:p.Lys110_Glu111= | XP_047277745.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X28 | XP_047277746.1:p.Lys110_Glu111= | XP_047277746.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X11 | XP_047277747.1:p.Lys81_Glu82= | XP_047277747.1:p.Lys81fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X14 | XP_047277748.1:p.Lys110_Glu111= | XP_047277748.1:p.Lys110fs |
| aspartyl/asparaginyl beta-hydroxylase isoform X16 | XP_047277749.1:p.Lys110_Glu111= | XP_047277749.1:p.Lys110fs |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
1 SubSNP,
1 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2737178568 | Nov 08, 2017 (151) |
| 2 | gnomAD - Exomes | NC_000008.10 - 62566210 | Jul 13, 2019 (153) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1432290316
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.